|Year : 2022 | Volume
| Issue : 6 | Page : 707-712
Posterior cloaca: Multicenter experience of a very rare and unusual anorectal and genitourinary malformation
Rohit Kapoor1, Amit Gupta2, Partap Singh Yadav2, Ankur Mandelia3
1 Department of Pediatric Surgery, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi; Department of Pediatric Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow; Department of Pediatric Surgery, AIIMS, Rae Barely, Uttar Pradesh, India
2 Department of Pediatric Surgery, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India
3 Department of Pediatric Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
|Date of Submission||04-Mar-2022|
|Date of Decision||14-Jun-2022|
|Date of Acceptance||30-Jul-2022|
|Date of Web Publication||11-Nov-2022|
Department of Pediatric Surgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow - 226 014, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Aim: Posterior cloacal malformations (PCMs) are distinguished from classical cloacal malformations by the posterior location of the common opening in the perineum. We aim to describe our experience of management of these rare and complex malformations.
Methods: This study was a retrospective chart review of all patients with PCM who underwent treatment at Kalawati Saran Children's Hospital (KSCH), New Delhi, and Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, between 2013 and 2021. Individual anatomical variations and their impact on the clinical presentation, management, and final outcome (cosmesis and function) were recorded and analyzed.
Results: During the study period, four girls with a median age of 2 (range: 0–5) years presented to us with PCM. Three patients were referred to KSCH as ambiguous genitalia whereas one patient was born at SGPGIMS with an antenatal diagnosis of “urorectal septal defect.” On examination, three patients had the urogenital sinus (UGS) opening immediately anterior to the normally located anal opening (2 orifices), whereas one had a single orifice at the normal location of the anus with the UGS opening in the anterior rectal wall. Associated anomalies included: (a) hydrocolpos (n = 3), which was managed by a tube vaginostomy; (b) urethral duplication with dorsal atretic urethra (n = 3); (c) uterine didelphys (n = 1); (d) bilateral grade 5 vesicoureteric reflux (n = 1); and (e) vaginal calculus (n = 1). Total urogenital mobilization (anterior sagittal approach) with feminizing genitoplasty was performed for patients with UGS and normal anus (n = 3). In the patient with a single opening at the normal location of the anus, posterior sagittal ano-recto-urethro-vaginoplasty was performed. At a median follow-up of 24 months, three patients are continent for urine and stool, whereas one patient is yet to be toilet trained.
Conclusions: PCMs are unusual complex malformations that necessitate meticulous clinical examination, detailed diagnostic workup, and multistaged surgical management. Management should be tailored as per each individual patient's anatomy and clinical presentation for an optimal outcome.
Keywords: Anorectal malformation, cloaca, posterior, posterior sagittal ano-recto-urethro-vaginoplasty, urogenital mobilization, urogenital sinus
|How to cite this article:|
Kapoor R, Gupta A, Yadav PS, Mandelia A. Posterior cloaca: Multicenter experience of a very rare and unusual anorectal and genitourinary malformation. J Indian Assoc Pediatr Surg 2022;27:707-12
|How to cite this URL:|
Kapoor R, Gupta A, Yadav PS, Mandelia A. Posterior cloaca: Multicenter experience of a very rare and unusual anorectal and genitourinary malformation. J Indian Assoc Pediatr Surg [serial online] 2022 [cited 2022 Nov 30];27:707-12. Available from: https://www.jiaps.com/text.asp?2022/27/6/707/360958
| Introduction|| |
By definition, “cloacal malformation” refers to the fusion of the urethra, vagina, and rectum to form a common channel which opens in the perineum at the site of a normal urethral opening. Peña and Kessler and Peña et al. used the term “posterior cloaca” to refer to a malformation in which the urethra and vagina are fused, forming a urogenital sinus (UGS) that is posteriorly deviated and opens in or immediately anterior to the rectal wall., These malformations are quite rare and there have been scattered case reports in literature until Peña et al. described this anomaly in detail in their book chapter published in 2015.
Amongst cloacal malformations, posterior cloacae are unique as they have a single orifice located in the same location as a normal anus instead of being located at the location of a normal urethral meatus. However, in some cases, instead of a single opening located posteriorly, the UGS is deviated posteriorly, to open just anterior to a normal anus. Although this anatomical variation should not be labeled a “cloaca” by the classical definition, due to the posterior mislocation of the UGS, it can be considered as a part of the spectrum of “posterior cloacal malformations (PCMs).” Furthermore, such malformations are frequently associated with genitourinary anomalies and hence merit a thorough genital examination and a complete urological evaluation. This series outlines our experience of management of these rare and complex malformations.
| Methods|| |
This study was a retrospective chart review of all patients with final diagnosis of PCM, who underwent treatment at Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital (KSCH), New Delhi, and Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, between 2013 and 2021. The clinical, radiological, and operative records of the patients were reviewed, and their parents were interviewed. All cases underwent a thorough clinical examination and complete workup for any associated anomalies.
In all cases, detailed anatomical assessment, including length of common channel, was done initially under anesthesia by panendoscopy (cystoscopy + genitoscopy). Surgical management was tailored to the individual patient's anatomy and any variations. Essential common steps included a total urogenital mobilization (TUM) with or without anorectoplasty. Individual anatomical variations and their impact on clinical presentation, management, and final outcome (cosmesis and function) were recorded and analyzed.
| Results|| |
During the study period, four girls with a median age of 2 (range: 0–5) years presented to us with PCM. Three patients were referred to KSCH as ambiguous genitalia whereas one patient was born at SGPGIMS with an antenatal diagnosis of “urorectal septal defect.” On examination, the three patients with ambiguous genitalia at KSCH had clitoromegaly, no opening within the vestibule and a UGS opening immediately anterior to the normally located anal opening (2 orifices) [Figure 1]a. The patient born at SGPGIMS had clitoromegaly, no opening within the vestibule with a single orifice at the normal location of the anus with the UGS opening in the anterior rectal wall [Table 1].
|Figure 1: (a) Clinical photograph showing UGS opening immediately anterior to the normally located anal opening (2 orifices), (b) Intraoperative photograph of the same patient showing accessory urethra hooked in artery forceps, (c) Mobilization of UGS with common channel split anteriorly till urethral (with Foley's catheter) and vaginal openings visualized separately, (d) Completed reconstruction. UGS: Urogenital sinus|
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|Table 1: Clinical and demographic variables of patients with posterior cloacal malformations (n=4)|
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Associated anomalies included: (a) hydrometrocolpos (n = 3), which was managed by a tube vaginostomy in all cases; (b) urethral duplication with dorsal atretic urethra (n = 3); (c) uterine didelphys (n = 1); (d) bilateral grade 5 vesicoureteric reflux (VUR) (n = 1); and (e) vaginal calculus (n = 1). None of the patients had associated cardiac, vertebral, or limb anomalies in our series [Table 1].
The patients underwent a median of 2.5 (range: 1–3) surgical procedures each [Table 2]. The mean age at definitive surgery was 4.1 (range: 2.5–5.7) years. On panendoscopy, all patients had a common channel length <3 cm (range: 1–2 cm). Tube vaginostomy was performed in all three patients with hydrocolpos. In these three patients, tube vaginostomy was removed after a median duration of 3 months (range: 1.5–4 months), once the output was minimal. Vesicostomy was performed at birth for the patient with bilateral grade 5 VUR. In this patient, the VUR resolved spontaneously by 2 years of age and vesicostomy was closed at the time of colostomy closure after posterior sagittal ano-recto-urethro-vaginoplasty (PSARVUP). In three out of four patients, atretic accessory urethra was present which was excised at definitive surgery [Table 2].
|Table 2: Operative and follow-up details of patients with posterior cloacal malformations (n=4)|
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In all the three patients with two perineal orifices, the surgical repair was done using an anterior sagittal approach through the perineum, staying anterior to the normal anus. TUM with feminizing genitoplasty (including subtunical reduction clitoroplasty) was performed. Following panendoscopy, the patients were placed in lithotomy position [Figure 1]a. The surgery started by placing multiple stay sutures on the edge of UGS to apply a uniform traction. The UGS was then carefully dissected off the anterior wall of rectum and mobilized completely [Figure 1]b. The UGS was then split in midline till urethral and vaginal openings were visualized separately [Figure 1]c. The urethral and vaginal openings, perineal body, and sphincter mechanism are then meticulously reconstructed. The split ends of UGS were used to fashion the labia minora [Figure 1]d.
The PCM with a single perineal opening (UGS opening in the anterior wall of anus) was surgically repaired by PSARVUP. On panendoscopy, urethral, vaginal, and rectal openings were identified opening into the common channel and the length of common channel was measured [Figure 2]. Different colored Foley's catheters were placed in the urethra and vagina for identification during dissection [Figure 3]. The patient was then placed in the prone jackknife position [Figure 3]a. Through a posterior sagittal incision, the entire sphincteric mechanism posterior to the rectum was divided staying exactly in the midline. Multiple stay sutures were then placed on the edge of UGS and rectum to apply a uniform traction. The UGS was then carefully dissected off the anterior wall of rectum and both were mobilized completely [Figure 3]b. The UGS was then split in midline till urethral and vaginal openings were visualized separately [Figure 3]c. The urethral and vaginal openings, perineal body, and sphincter mechanism are then meticulously reconstructed [Figure 3]d.
|Figure 2: Endoscopy image in a patient with a single perineal opening showing urethra, vagina, and rectum opening in the common channel|
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|Figure 3: (a) Intraoperative photograph showing single perineal opening (UGS opening in the anterior wall of anus). Following panendoscopy, different colored Foley's catheters were placed in the UGS (transparent catheter) and rectum (yellow catheter), (b) Separation and mobilization of rectum and UGS, (c) Splitting of common channel of UGS posteriorly till urethral and vaginal openings are visualized separately, (d) Completed reconstruction|
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None of the patients had any intraoperative or postoperative complications. All patients were followed up at regular intervals with clinical examination and ultrasonography for associated anomalies. Anal and vaginal calibration was performed to rule out stenosis. Daytime and nighttime urinary and fecal continence, sensation of bladder and rectal fullness, ability to void and defecate on command, uroflow, and urodynamic studies were done for all patients at the time of follow-up. At a median follow-up of 24 (range: 12–84) months, three patients are continent for urine and stool, whereas one patient is yet to be toilet trained. None of the patients have evidence of vaginal stenosis. Uroflow and urodynamic studies did not reveal overactive bladder or detrusor sphincter dyssynergia in any of the patients.
| Discussion|| |
A typical cloaca has a single perineal orifice located at the site of normal urethra. We describe a very rare and unusual series of patients with “posterior cloaca.” These patients usually have a single perineal orifice, as per the classical definition of “cloaca;” but what makes this defect unique is the common finding of a posteriorly displaced UGS which opens into the anterior wall of an “anatomically normal” anus.
In the purest sense, the term “cloaca” should be strictly reserved for female patients with a single perineal orifice. In our series, three cases had two perineal openings (a normally placed anus and a posteriorly displaced UGS) and such a presentation has been described by Peña and Kessler as a part of the spectrum of PCM. The common anatomical denominator is the posterior location of the UGS, with a normal or slightly anteriorly placed anus. This is quite different from the anatomy seen in patients with persistent UGS anomaly, wherein the UGS opens at the site of a normal urethral opening with the presence of a normal anus.
The unique defect of “posterior cloaca” was first described by Pena and Kessler in a report of nine cases. Previously, Leditsehke and Pena had reported a case with similar anatomy in 1991; however, the term posterior cloaca was not used in that report. Since then, various authors have reported cases of posterior cloaca, mostly as isolated case reports or short series.,, Few other authors have not used the term “posterior cloaca” and described these malformations as “partial urorectal septal defect” and other terminology, wherein the anatomical features (in text and figures) were consistent with the diagnosis of a “posterior cloaca.”,,,,
Peña et al. reported 29 patients with “posterior cloaca” in 2010. Of these, 15 had a single orifice at the normal location of the anus with the UGS opening in the anterior rectal wall. Fourteen had the UGS opening immediately anterior to the normally located anal opening (2 orifices). The authors concluded that the most important characteristic of the posterior cloaca is the high frequency of a normal anus, which differentiates this malformation from the classic cloaca. A TUM, transperineally or with a transanorectal approach, is ideal for the repair.
As is true for classical cloacal malformations, PCMs are also associated with anomalies involving multiple systems. Peña et al. reported a high association between PCM and hydrocolpos (65%), as compared to typical cloacae and hydrocolpos (25%). We found a similar association in our series, with 3 (75%) patients presenting with hydrocolpos and requiring a tube vaginostomy procedure. The high incidence of hydrocolpos with cloacae, especially PCM, may be due to the anatomical configuration of this malformation which makes drainage of fluid from vagina more difficult. This finding reemphasizes the need of keeping a high index of suspicion for early detection of hydrocolpos and ensuring an adequate drainage.
The association between anorectal malformations and urologic anomalies varies from 59% (if common channel length <3 cm) to 91% (if common channel length >3 cm). Peña et al. reported the incidence of urologic anomalies associated with PCM as 93%; the most frequent anomaly was an accessory stenotic urethra. The authors also reported that this anomaly was frequently associated with overgrowth of the pubic bone, the cause or implications of which are at present not known. The authors recommended that more than 50% of the thick pubic cartilage can be resected to create space for mobilized UGS and construct urethral and vaginal orifices in a more anatomical location near the clitoris. In our series, 3 out of 4 (75%) patients had an accessory stenotic urethra which was excised at the time of reconstruction. In addition, one of the cases also had a duplication of this accessory urethra, a finding which has not been reported before in literature in association with PCM.
A common concern raised previously by various authors,, and as also seen in our experience is the delay in recognition of this complex and rare malformation. This is partly due to the lack of understanding of the complexity of the anatomy among the first contact physicians. Furthermore, as the patients have a normal anus, the malformation can only be recognized by spreading the labia and observing the absence of a normal urethral and vaginal opening. In our series, 3 (75%) patients were referred to us with a diagnosis of ambiguous genitalia after undergoing hormonal workup and karyotyping; however, the referring physician had not recognized the absence of urethral and vaginal opening in the vestibule.
Although the final goals of treatment of PCM remain the same as that for typical cloacae, treatment of these “unusual” malformations should always be tailored as per the individual anatomy; treatment of these “unusual” malformations should always be tailored as per the individual anatomy. The important features in the pathological anatomy of posterior cloaca which affect the surgical management are – (1) single or two perineal orifices, (2) length of common channel, (3) hydrocolpos, (4) thickened pubis, and (5) Y-type urethral duplication. In our case with a single perineal orifice, repair was performed by TUM following separation from the anorectum as described by Peña et al. for repairing a typical cloaca. After observing the normally formed anorectum during the surgical repair of their first case of PCM, Peña and Kessler and Peña et al. made an important modification in the posterior sagittal approach by dividing the anorectum and perineal body in the midline to obtain excellent exposure to the UGS., This modification avoided inadvertent damage to the normally formed sphincter complex and nerves as a consequence of perirectal dissection while mobilizing the anorectum during repair of a typical cloaca. They named it posterior sagittal “transanorectal” approach. PCMs with short common channel (<3 cm) and two separate perineal orifices are usually treated by TUM via transperineal approach without disturbing the anorectum at all, thereby preserving the potential for bowel continence, as was done in 3 (75%) of our cases.
At a median follow-up of 24 months, 3 (75%) of our patients are continent for urine and stool and have voluntary bowel movements, whereas 1 (25%) patient is yet to be toilet trained. Our long-term outcomes of PCM appear to be better when compared with those of typical cloaca; however, this may be due to the fact that in all these three patients, the normal anorectum was not disturbed and thereby the capacity for bowel control in these patients might be preserved. Furthermore, none of our patients had an associated vertebral anomaly.
| Conclusions|| |
- PCMs have a unique anatomy which differentiates them from a typical cloaca. A posteriorly mislocated UGS, opening into the anterior anorectal wall or immediately anterior to “normal” anus, is the pathognomonic feature
- This anatomy has important implications on surgical management, allowing for preservation of the inherent potential for normal bowel continence
- Associated Y-type urethral duplication is repaired by excising the dorsal atretic urethra
- Feminizing genitoplasty comprises using split end of UGS to construct labia minora and reduction clitoroplasty for significant clitoral hypertrophy
- Long-term follow-up is needed for associated urogenital anomalies, assessment of urinary and fecal continence, and sexual function.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]
[Table 1], [Table 2]